Mutagenetix > Incidental Mutation

Incidental Mutation 'R0244:Atp6v0b'

37954

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0b

Ensembl Gene

ENSMUSG00000033379

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit B

Synonyms

2310024H13Rik, VMA16, Atp6f

MMRRC Submission

038482-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R0244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117884326-117887333 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 117884622 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 204 (G204D)

Ref Sequence

ENSEMBL: ENSMUSP00000047682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030265] [ENSMUST00000030266] [ENSMUST00000036380] [ENSMUST00000084325] [ENSMUST00000106421] [ENSMUST00000132073] [ENSMUST00000136596] [ENSMUST00000150204] [ENSMUST00000183773] [ENSMUST00000153358] [ENSMUST00000149868] [ENSMUST00000147845] [ENSMUST00000171548] [ENSMUST00000167443]

AlphaFold

Q91V37

Predicted Effect

probably benign
Transcript: ENSMUST00000030265

SMART Domains

Protein: ENSMUSP00000030265
Gene: ENSMUSG00000028540

Domain	Start	End	E-Value	Type
Pfam:Diphthamide_syn	54	375	2.8e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030266

SMART Domains

Protein: ENSMUSP00000030266
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	228	4.2e-59	PFAM
Pfam:Glyco_transf_7C	232	310	2.1e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000036380
AA Change: G204D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047682
Gene: ENSMUSG00000033379
AA Change: G204D

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:ATP-synt_C	50	112	1.2e-15	PFAM
Pfam:ATP-synt_C	136	198	1.8e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084325

SMART Domains

Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	230	1.9e-47	PFAM
Pfam:Glyco_transf_7C	232	310	2.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106421

SMART Domains

Protein: ENSMUSP00000102029
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	230	1.9e-47	PFAM
Pfam:Glyco_transf_7C	232	310	2.6e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128263

Predicted Effect

probably benign
Transcript: ENSMUST00000132073

SMART Domains

Protein: ENSMUSP00000137654
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	1.4e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133530

Predicted Effect

probably benign
Transcript: ENSMUST00000136596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139332

Predicted Effect

probably damaging
Transcript: ENSMUST00000150204
AA Change: G157D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119988
Gene: ENSMUSG00000033379
AA Change: G157D

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	8.2e-19	PFAM
Pfam:ATP-synt_C	88	152	1.4e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152356

Predicted Effect

probably benign
Transcript: ENSMUST00000183773

Predicted Effect

probably benign
Transcript: ENSMUST00000153358

SMART Domains

Protein: ENSMUSP00000120571
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	197	9.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149868

SMART Domains

Protein: ENSMUSP00000137788
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	3.1e-19	PFAM
transmembrane domain	84	106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147845

Predicted Effect

probably benign
Transcript: ENSMUST00000171548

SMART Domains

Protein: ENSMUSP00000126539
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167443

SMART Domains

Protein: ENSMUSP00000128771
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	188	1.1e-24	PFAM

Meta Mutation Damage Score

0.1519

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (88/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,286,491		probably null	Het
Adamdec1	A	T	14: 68,568,723	C434*	probably null	Het
Adprhl1	A	G	8: 13,242,391		probably benign	Het
Ago1	T	A	4: 126,463,706	I59F	possibly damaging	Het
Arel1	T	C	12: 84,920,693	T786A	probably damaging	Het
Arhgap26	A	G	18: 39,363,131	K117R	probably benign	Het
Bace2	T	A	16: 97,436,773		probably null	Het
Camk4	G	A	18: 33,179,625		probably null	Het
Cdh26	C	T	2: 178,481,632	R675C	possibly damaging	Het
Cep152	T	C	2: 125,564,214	E1466G	probably benign	Het
Ces3b	T	C	8: 105,092,635	F441S	probably damaging	Het
Cfap52	T	C	11: 67,926,382	T562A	possibly damaging	Het
Clca3a2	C	A	3: 144,813,898	M238I	possibly damaging	Het
Cntnap5c	A	T	17: 58,102,168	D467V	probably damaging	Het
Col7a1	T	A	9: 108,972,184		probably null	Het
Cstf1	A	G	2: 172,377,710	N247S	possibly damaging	Het
Dffb	G	T	4: 153,974,615	N68K	probably benign	Het
Duox2	C	T	2: 122,291,860	G595S	probably benign	Het
Eftud2	T	A	11: 102,864,725	I228F	probably damaging	Het
Elmo3	T	C	8: 105,309,171	V578A	probably benign	Het
Elp2	A	G	18: 24,631,471	D625G	possibly damaging	Het
Ep300	C	T	15: 81,640,128	P1386S	unknown	Het
Fam120b	A	G	17: 15,417,637	D610G	probably damaging	Het
Fastk	A	T	5: 24,442,178		probably benign	Het
Fbxl6	A	G	15: 76,537,191	S252P	probably damaging	Het
Fbxo43	T	C	15: 36,161,793	K423E	probably damaging	Het
Filip1	T	A	9: 79,819,462	E625V	possibly damaging	Het
Fkbp9	T	A	6: 56,856,378	Y283*	probably null	Het
Gigyf2	T	A	1: 87,379,015	D142E	possibly damaging	Het
Gm10142	T	C	10: 77,716,014		probably null	Het
Golga5	T	C	12: 102,476,188	V262A	probably benign	Het
Hectd4	T	C	5: 121,329,605	V2539A	probably benign	Het
Ica1	G	T	6: 8,653,632	S335*	probably null	Het
Itga1	A	T	13: 115,006,897		probably benign	Het
Itgb1	T	C	8: 128,717,685		probably benign	Het
Itpr1	G	A	6: 108,473,589	V1960I	probably benign	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Kprp	C	T	3: 92,825,411	V111I	probably benign	Het
Lamc3	T	C	2: 31,940,721	I1490T	probably damaging	Het
Lcp1	A	T	14: 75,227,001	D554V	possibly damaging	Het
Lgi3	A	G	14: 70,534,698	T228A	probably benign	Het
Lipa	A	T	19: 34,501,541	F260I	probably damaging	Het
Lrriq1	C	T	10: 103,215,773	E373K	probably damaging	Het
Map6	G	A	7: 99,336,836	G649D	probably benign	Het
Mccc1	A	G	3: 35,990,047		probably null	Het
Mical3	A	T	6: 120,957,722	S1799T	probably benign	Het
Mmp23	T	A	4: 155,652,132	T151S	probably damaging	Het
Myo1d	T	A	11: 80,674,708	N401I	probably damaging	Het
Myo9b	T	A	8: 71,321,813	S323T	probably damaging	Het
Nbn	G	T	4: 15,979,353	W446L	probably benign	Het
Nedd1	A	T	10: 92,716,265		probably benign	Het
Ngef	C	A	1: 87,487,962		probably benign	Het
Nup153	A	T	13: 46,693,936	N672K	probably benign	Het
Olfr1308	T	C	2: 111,961,016	N19S	probably benign	Het
Olfr149	T	A	9: 39,702,173	I199F	probably damaging	Het
Olfr1509	T	C	14: 52,450,512	V33A	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Palm2	T	G	4: 57,710,177	V374G	possibly damaging	Het
Pdlim3	C	A	8: 45,908,460		probably benign	Het
Pmfbp1	G	A	8: 109,541,673	E951K	probably damaging	Het
Pop1	T	A	15: 34,515,891	C548*	probably null	Het
Ppp1r16a	C	T	15: 76,690,799		probably benign	Het
Ptpdc1	A	T	13: 48,585,980	N658K	probably benign	Het
Ptprk	A	C	10: 28,206,225	E63D	possibly damaging	Het
Rtf1	C	T	2: 119,732,877	R712W	probably damaging	Het
Samd7	A	C	3: 30,751,073	T2P	probably benign	Het
Sft2d1	A	G	17: 8,319,422	T52A	probably benign	Het
Slc25a26	A	G	6: 94,510,833	H91R	probably damaging	Het
Slc5a4a	A	G	10: 76,189,152	E621G	possibly damaging	Het
Slf1	A	T	13: 77,126,632	L28*	probably null	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Sorcs2	G	A	5: 36,397,553		probably benign	Het
Tacc2	T	C	7: 130,751,825		probably benign	Het
Tas2r140	A	G	6: 133,055,327	V156A	possibly damaging	Het
Terf2ip	C	A	8: 112,018,164	T371K	possibly damaging	Het
Tifa	C	T	3: 127,796,888	L103F	probably damaging	Het
Tmco3	A	G	8: 13,292,037	N104D	probably damaging	Het
Tmem259	T	A	10: 79,978,963	D240V	probably damaging	Het
Trim60	C	T	8: 65,001,048	R183H	probably benign	Het
Trps1	T	C	15: 50,664,743	N725D	probably damaging	Het
Ttn	C	T	2: 76,814,806	V12902M	probably damaging	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Unc79	A	G	12: 103,112,891	K1772E	probably damaging	Het
Vwde	C	T	6: 13,193,126	V405I	probably benign	Het
Wdr18	T	A	10: 79,966,408	D290E	probably damaging	Het
Wdr92	T	C	11: 17,229,851	L284P	probably damaging	Het
Wwc2	G	A	8: 47,900,721	A126V	probably benign	Het
Zfp882	A	T	8: 71,913,523	I105F	possibly damaging	Het
Zfp942	A	T	17: 21,928,572	C359S	probably benign	Het

Other mutations in Atp6v0b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Atp6v0b	APN	4	117885106	nonsense	probably null
IGL01556:Atp6v0b	APN	4	117885865	missense	probably damaging	1.00
IGL01998:Atp6v0b	APN	4	117886066	critical splice donor site	probably null
IGL02369:Atp6v0b	APN	4	117885653	missense	possibly damaging	0.95
IGL02953:Atp6v0b	APN	4	117885222	missense	probably damaging	1.00
PIT4362001:Atp6v0b	UTSW	4	117885256	missense	possibly damaging	0.88
R5636:Atp6v0b	UTSW	4	117886385	unclassified	probably benign
R6974:Atp6v0b	UTSW	4	117885667	missense	probably benign	0.19
R7581:Atp6v0b	UTSW	4	117885286	missense	probably benign	0.00
R7851:Atp6v0b	UTSW	4	117885865	missense	probably damaging	1.00
R7866:Atp6v0b	UTSW	4	117885153	missense	probably damaging	1.00
X0057:Atp6v0b	UTSW	4	117886623	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- GCCTCACTGACTGGGACAAATACC -3'
(R):5'- GCTGACTCTTGGCGACACTAACAC -3'

Sequencing Primer
(F):5'- CACACTGGGGTTCAGTCTG -3'
(R):5'- TTGGCGACACTAACACTGTCC -3'

Posted On

2013-05-23